Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AJAP1 0 genome.wustl.edu 37 1 4771985 4771985 + Missense_Mutation SNP C C G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 1 4771985 4771985 C G SNP AJAP1 ENST00000378190 human ensembl 69_37n +1 known missense c.55 p.R19G 0.990 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 32 0 0.00 24 8 25.00 - - - ASB9 0 genome.wustl.edu 37 X 15272920 15272920 + Missense_Mutation SNP T T C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 X 15272920 15272920 T C SNP ASB9 ENST00000380488 human ensembl 69_37n -1 known missense c.221 p.H74R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB9 HGNC ENSG00000102048 266 1 0.37 240 171 41.61 - - - ATP10D 0 genome.wustl.edu 37 4 47574191 47574191 + Missense_Mutation SNP A A G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 4 47574191 47574191 A G SNP ATP10D ENST00000273859 human ensembl 69_37n +1 known missense c.3184 p.S1062G 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ENSG00000145246 177 0 0.00 186 30 13.82 - - - BCAR3 0 genome.wustl.edu 37 1 94140474 94140474 + Missense_Mutation SNP T T G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 1 94140474 94140474 T G SNP BCAR3 ENST00000260502 human ensembl 69_37n -1 known missense c.13 p.K5Q 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 43 0 0.00 42 16 27.59 - - - CDH23 0 genome.wustl.edu 37 10 73439160 73439160 + Frame_Shift_Del DEL C C - TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 10 73439160 73439160 C - DEL CDH23 ENST00000224721 human ensembl 69_37n +1 known frame_shift_del c.1778 p.P594fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 12 0 0.00 4 2 33.33 - - - CHD1L 0 genome.wustl.edu 37 1 146766140 146766140 + Missense_Mutation SNP G G C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 1 146766140 146766140 G C SNP CHD1L ENST00000369258 human ensembl 69_37n +1 known missense c.2556 p.W852C 1.000 pfscan_A1pp pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 432 1 0.23 543 134 19.79 - - - CHRNB4 0 genome.wustl.edu 37 15 78921528 78921528 + Silent SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 15 78921528 78921528 G A SNP CHRNB4 ENST00000261751 human ensembl 69_37n -1 known silent c.1119 p.T373 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 49 0 0.00 24 24 50.00 - - - CHST11 0 genome.wustl.edu 37 12 105151386 105151386 + Silent SNP C C T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 12 105151386 105151386 C T SNP CHST11 ENST00000303694 human ensembl 69_37n +1 known silent c.864 p.Y288 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC ENSG00000171310 168 0 0.00 120 29 19.46 - - - CKAP5 0 genome.wustl.edu 37 11 46839992 46839992 + Silent SNP A A G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 11 46839992 46839992 A G SNP CKAP5 ENST00000415402 human ensembl 69_37n -1 known silent c.120 p.D40 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 242 0 0.00 162 89 35.18 - - - CLEC16A 0 genome.wustl.edu 37 16 11076751 11076751 + Missense_Mutation SNP A A T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 16 11076751 11076751 A T SNP CLEC16A ENST00000409790 human ensembl 69_37n +1 known missense c.974 p.H325L 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 45 0 0.00 28 23 45.10 - - - DICER1 0 genome.wustl.edu 37 14 95574771 95574771 + Missense_Mutation SNP C C A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 14 95574771 95574771 C A SNP DICER1 ENST00000343455 human ensembl 69_37n -1 known missense c.2326 p.V776F 1.000 NULL pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 189 0 0.00 147 38 20.54 - - - DMBT1 0 genome.wustl.edu 37 10 124402730 124402730 + Missense_Mutation SNP T T A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 10 124402730 124402730 T A SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known missense c.7445 p.F2482Y 0.051 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 89 0 0.00 81 15 15.62 - - - DNAH17 0 genome.wustl.edu 37 17 76459120 76459120 + Missense_Mutation SNP C C T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 17 76459120 76459120 C T SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.8938 p.V2980M 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 50 0 0.00 27 6 18.18 - - - ERBB2 0 genome.wustl.edu 37 17 37868205 37868205 + Missense_Mutation SNP G G C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 17 37868205 37868205 G C SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.926 p.G309A 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 136 0 0.00 79 12 13.19 - - - FAM169A 0 genome.wustl.edu 37 5 74096704 74096704 + Splice_Site SNP C C G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 5 74096704 74096704 C G SNP FAM169A ENST00000389156 human ensembl 69_37n -1 known splice_site c.1103+1 e9+1 1.000 - - - no_errors FAM169A HGNC ENSG00000198780 268 1 0.37 214 74 25.69 - - - FRMPD4 0 genome.wustl.edu 37 X 12627986 12627986 + Missense_Mutation SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 X 12627986 12627986 G A SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.305 p.R102H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 99 0 0.00 123 74 37.56 - - - GLT8D1 0 genome.wustl.edu 37 3 52729266 52729266 + Missense_Mutation SNP G G C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 3 52729266 52729266 G C SNP GLT8D1 ENST00000266014 human ensembl 69_37n -1 known missense c.865 p.L289V 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 173 0 0.00 24 100 80.65 - - - GPHB5 0 genome.wustl.edu 37 14 63784514 63784514 + RNA SNP G G C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 14 63784514 63784514 G C SNP GPHB5 ENST00000314140 human ensembl 69_37n -1 known rna NULL NULL 0.909 - - - no_errors GPHB5 HGNC ENSG00000179600 58 0 0.00 46 18 28.12 - - - GPR50 0 genome.wustl.edu 37 X 150348636 150348636 + Missense_Mutation SNP G G T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 X 150348636 150348636 G T SNP GPR50 ENST00000218316 human ensembl 69_37n +1 known missense c.581 p.C194F 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mel_rcpt_1X,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 303 0 0.00 189 161 46.00 - - - GRHL2 0 genome.wustl.edu 37 8 102570972 102570972 + Missense_Mutation SNP C C T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 8 102570972 102570972 C T SNP GRHL2 ENST00000251808 human ensembl 69_37n +1 known missense c.610 p.L204F 0.998 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 76 0 0.00 88 158 63.71 - - - GRIN2A 0 genome.wustl.edu 37 16 9858117 9858117 + Missense_Mutation SNP G G T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 16 9858117 9858117 G T SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.3284 p.P1095H 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 227 0 0.00 282 94 24.93 - - - GRIN2B 0 genome.wustl.edu 37 12 13906251 13906251 + Missense_Mutation SNP C C G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 12 13906251 13906251 C G SNP GRIN2B ENST00000279593 human ensembl 69_37n -1 known missense c.1010 p.R337T 1.000 NULL pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 347 0 0.00 347 125 26.48 - - - HDAC5 0 genome.wustl.edu 37 17 42157800 42157801 + Frame_Shift_Ins INS - - G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 17 42157800 42157801 - G INS HDAC5 ENST00000225983 human ensembl 69_37n -1 known frame_shift_ins c.2797_2796 p.I932fs 1.000:0.974 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 48 0 0.00 53 6 10.17 - - - HUWE1 0 genome.wustl.edu 37 X 53573461 53573461 + Missense_Mutation SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 X 53573461 53573461 G A SNP HUWE1 ENST00000427052 human ensembl 69_37n -1 known missense c.7951 p.H2651Y 1.000 NULL pfam_HECT,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HUWE1 HGNC ENSG00000086758 90 0 0.00 88 63 41.72 - - - KIRREL2 0 genome.wustl.edu 37 19 36357208 36357208 + Silent SNP C C T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 19 36357208 36357208 C T SNP KIRREL2 ENST00000360202 human ensembl 69_37n +1 known silent c.1941 p.G647 0.121 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC ENSG00000126259 81 0 0.00 31 8 20.51 - - - KITLG 0 genome.wustl.edu 37 12 88939581 88939581 + Missense_Mutation SNP T T C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 12 88939581 88939581 T C SNP KITLG ENST00000228280 human ensembl 69_37n -1 known missense c.77 p.E26G 0.937 pfam_SCF,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 86 0 0.00 115 22 16.06 - - - MEI1 0 genome.wustl.edu 37 22 42166957 42166957 + Missense_Mutation SNP A A C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 22 42166957 42166957 A C SNP MEI1 ENST00000401548 human ensembl 69_37n +1 known missense c.2536 p.I846L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 299 1 0.33 324 39 10.74 - - - MUC20 0 genome.wustl.edu 37 3 195345582 195345582 + Missense_Mutation SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 3 195345582 195345582 G A SNP MUC20 ENST00000381954 human ensembl 69_37n +1 known missense c.55 p.A19T 0.003 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 25 0 0.00 48 8 14.29 - - - MYH2 0 genome.wustl.edu 37 17 10436645 10436645 + Missense_Mutation SNP C C A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 17 10436645 10436645 C A SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known missense c.2398 p.G800W 1.000 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 271 1 0.37 332 80 19.42 - - - NLRP10 0 genome.wustl.edu 37 11 7982171 7982171 + Missense_Mutation SNP C C A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 11 7982171 7982171 C A SNP NLRP10 ENST00000328600 human ensembl 69_37n -1 known missense c.988 p.D330Y 0.117 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 159 0 0.00 158 34 17.62 - - - NRP2 0 genome.wustl.edu 37 2 206659554 206659554 + Missense_Mutation SNP G G C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 2 206659554 206659554 G C SNP NRP2 ENST00000360409 human ensembl 69_37n +1 known missense c.2568 p.K856N 1.000 pirsf_Neuropilin pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 110 0 0.00 48 37 43.53 - - - OR5H1 0 genome.wustl.edu 37 3 97851850 97851850 + Silent SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 3 97851850 97851850 G A SNP OR5H1 ENST00000354565 human ensembl 69_37n +1 known silent c.309 p.S103 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 675 0 0.00 500 398 44.22 - - - PARP11 0 genome.wustl.edu 37 12 3939170 3939170 + Silent SNP T T C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 12 3939170 3939170 T C SNP PARP11 ENST00000228820 human ensembl 69_37n -1 known silent c.33 p.K11 0.995 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 106 0 0.00 111 16 12.60 - - - PIPSL 0 genome.wustl.edu 37 10 95721155 95721155 + RNA SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 10 95721155 95721155 G A SNP PIPSL ENST00000480546 human ensembl 69_37n -1 putative rna NULL NULL 0.416 - - - no_errors PIPSL HGNC ENSG00000180764 153 0 0.00 139 21 13.12 - - - PLCB2 0 genome.wustl.edu 37 15 40599840 40599841 + Frame_Shift_Ins INS - - G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 15 40599840 40599841 - G INS PLCB2 ENST00000260402 human ensembl 69_37n -1 known frame_shift_ins c.34_33 p.K11fs 0.060:0.002 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 27 0 0.00 15 2 11.76 - - - PLCZ1 0 genome.wustl.edu 37 12 18854640 18854640 + Missense_Mutation SNP C C G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 12 18854640 18854640 C G SNP PLCZ1 ENST00000266505 human ensembl 69_37n -1 known missense c.935 p.G312A 0.055 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 145 0 0.00 112 18 13.74 - - - PLEKHH1 0 genome.wustl.edu 37 14 68029176 68029176 + Frame_Shift_Del DEL A A - TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 14 68029176 68029176 A - DEL PLEKHH1 ENST00000329153 human ensembl 69_37n +1 known frame_shift_del c.828 p.R276fs 0.034 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 74 0 0.00 6 24 77.42 - - - PLXNA2 0 genome.wustl.edu 37 1 208257849 208257849 + Missense_Mutation SNP C C T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 1 208257849 208257849 C T SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known missense c.2174 p.R725Q 0.789 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 77 0 0.00 62 11 15.07 - - - POU4F3 0 genome.wustl.edu 37 5 145719165 145719165 + Missense_Mutation SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 5 145719165 145719165 G A SNP POU4F3 ENST00000230732 human ensembl 69_37n +1 known missense c.175 p.A59T 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU4F3 HGNC ENSG00000091010 130 0 0.00 111 18 13.85 - - - RAE1 0 genome.wustl.edu 37 20 55949808 55949808 + Missense_Mutation SNP A A G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 20 55949808 55949808 A G SNP RAE1 ENST00000371242 human ensembl 69_37n +1 known missense c.971 p.N324S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 222 0 0.00 229 34 12.93 - - - RNF10 0 genome.wustl.edu 37 12 121013640 121013640 + Missense_Mutation SNP A A G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 12 121013640 121013640 A G SNP RNF10 ENST00000413266 human ensembl 69_37n +1 known missense c.2261 p.E754G 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 434 0 0.00 231 113 32.75 - - - RPL7 0 genome.wustl.edu 37 8 74204933 74204933 + Silent SNP G G T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 8 74204933 74204933 G T SNP RPL7 ENST00000352983 human ensembl 69_37n -1 known silent c.114 p.A38 1.000 pfam_Ribosomal_L30_N,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7 HGNC ENSG00000147604 83 0 0.00 72 14 16.28 - - - SDK2 0 genome.wustl.edu 37 17 71427674 71427674 + Missense_Mutation SNP C C A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 17 71427674 71427674 C A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.1447 p.V483F 0.944 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 70 0 0.00 59 10 14.49 - - - SETD2 0 genome.wustl.edu 37 3 47084164 47084164 + Silent SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 3 47084164 47084164 G A SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known silent c.7125 p.L2375 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 168 0 0.00 35 109 75.69 - - - SLC25A28 0 genome.wustl.edu 37 10 101370803 101370803 + Missense_Mutation SNP G G C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 10 101370803 101370803 G C SNP SLC25A28 ENST00000370495 human ensembl 69_37n -1 known missense c.898 p.H300D 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A28 HGNC ENSG00000155287 117 1 0.85 39 60 60.61 - - - SLC30A5 0 genome.wustl.edu 37 5 68413160 68413160 + Missense_Mutation SNP T T C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 5 68413160 68413160 T C SNP SLC30A5 ENST00000396591 human ensembl 69_37n +1 known missense c.1376 p.L459S 0.998 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 219 0 0.00 372 80 17.66 - - - SLC7A6OS 0 genome.wustl.edu 37 16 68337945 68337945 + Missense_Mutation SNP C C A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 16 68337945 68337945 C A SNP SLC7A6OS ENST00000263997 human ensembl 69_37n -1 known missense c.662 p.S221I 0.980 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 102 0 0.00 69 26 27.37 - - - SPTY2D1 0 genome.wustl.edu 37 11 18636798 18636798 + Silent SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 11 18636798 18636798 G A SNP SPTY2D1 ENST00000336349 human ensembl 69_37n -1 known silent c.1023 p.A341 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 179 0 0.00 112 45 28.66 - - - TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58093249 58093249 + RNA SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 17 58093249 58093249 G A SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 69_37n -1 known rna NULL NULL 0.992 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 29 0 0.00 15 7 31.82 - - - TM9SF3 0 genome.wustl.edu 37 10 98303943 98303943 + Missense_Mutation SNP T T A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 10 98303943 98303943 T A SNP TM9SF3 ENST00000371142 human ensembl 69_37n -1 known missense c.1075 p.M359L 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 174 0 0.00 143 30 17.34 - - - TMEM14E 0 genome.wustl.edu 37 3 152058621 152058621 + Missense_Mutation SNP C C T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 3 152058621 152058621 C T SNP TMEM14E ENST00000408960 human ensembl 69_37n -1 known missense c.73 p.G25S 0.003 pfam_UPF0136_TM pfam_UPF0136_TM - no_errors TMEM14E HGNC ENSG00000221962 82 0 0.00 152 47 23.62 - - - TNS3 0 genome.wustl.edu 37 7 47333397 47333397 + Missense_Mutation SNP G G A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 7 47333397 47333397 G A SNP TNS3 ENST00000311160 human ensembl 69_37n -1 known missense c.3706 p.H1236Y 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 172 0 0.00 131 42 24.28 - - - TP53 0 genome.wustl.edu 37 17 7578547 7578547 + Frame_Shift_Del DEL G G - TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 17 7578547 7578547 G - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.383 p.P128fs 0.106 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 56 0 0.00 7 44 80.00 - - - TSR2 0 genome.wustl.edu 37 X 54467178 54467179 + Frame_Shift_Ins INS - - G TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 X 54467178 54467179 - G INS TSR2 ENST00000375151 human ensembl 69_37n +1 known frame_shift_ins c.137_138 p.A49fs 1.000:0.998 pfam_Pre-rRNA_process_TSR2 pfam_Pre-rRNA_process_TSR2 - no_errors TSR2 HGNC ENSG00000158526 10 0 0.00 15 2 11.76 - - - TTN 0 genome.wustl.edu 37 2 179604295 179604295 + Silent SNP C C A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 2 179604295 179604295 C A SNP TTN ENST00000342175 human ensembl 69_37n -1 known silent c.13152 p.G4384 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 266 1 0.37 182 54 22.78 - - - WDR5 0 genome.wustl.edu 37 9 137021657 137021657 + Silent SNP T T A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 9 137021657 137021657 T A SNP WDR5 ENST00000358625 human ensembl 69_37n +1 known silent c.846 p.L282 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR5 HGNC ENSG00000196363 42 0 0.00 15 7 31.82 - - - YIF1B 0 genome.wustl.edu 37 19 38799894 38799894 + Missense_Mutation SNP C C A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 19 38799894 38799894 C A SNP YIF1B ENST00000588002 human ensembl 69_37n -1 known missense c.314 p.W105L 0.999 pfam_Hrf1 pfam_Hrf1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region YIF1B HGNC ENSG00000167645 56 0 0.00 33 12 26.67 - - - ZFP28 0 genome.wustl.edu 37 19 57066546 57066546 + Nonsense_Mutation SNP G G T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 19 57066546 57066546 G T SNP ZFP28 ENST00000301318 human ensembl 69_37n +1 known nonsense c.2392 p.G798* 0.101 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 332 0 0.00 385 78 16.85 - - - ZMAT1 0 genome.wustl.edu 37 X 101152870 101152870 + Missense_Mutation SNP G G T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 X 101152870 101152870 G T SNP ZMAT1 ENST00000372782 human ensembl 69_37n -1 known missense c.476 p.A159E 0.015 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 429 0 0.00 618 109 14.99 - - - ZNF616 0 genome.wustl.edu 37 19 52618711 52618711 + Missense_Mutation SNP C C A TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 19 52618711 52618711 C A SNP ZNF616 ENST00000330123 human ensembl 69_37n -1 known missense c.1706 p.R569I 0.204 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 189 0 0.00 275 106 27.82 - - - ZNF711 0 genome.wustl.edu 37 X 84525674 84525674 + Missense_Mutation SNP G G T TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f540c4f8-75b3-47d7-a7cf-53cbf7a2c814 d8d09274-b620-4783-96d1-7b1ba32f89e6 X 84525674 84525674 G T SNP ZNF711 ENST00000395402 human ensembl 69_37n +1 known missense c.1150 p.D384Y 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 62 0 0.00 65 40 38.10 - - -